PURPOSE: This study assesses the occurrence of asplenism and gallstones in patients with autoimmune polyglandular disease type I (APG I). PATIENTS AND METHODS: Nine patients with APG I (ages 14 to 48) were studied at the National Institutes of Health. Each patient received endocrine testing, a careful examination of his or her peripheral blood smear, lymphocyte immunophenotyping, a liver-spleen scan, and either an upper abdominal ultrasound or a computer-assisted tomogram to evaluate the spleen and gallbladder. RESULTS: We documented asplenism in four patients and cholelithiasis in four patients, with two patients having both conditions. The patients with asplenism had Howell-Jolly bodies on peripheral blood smears, lack of splenic uptake by liver-spleen scan, and absent spleens by abdominal computed tomographic scan or ultrasound evaluation. The clinical presentation of the patients with cholelithiasis ranged from acute symptoms requiring surgery to asymptomatic gallstones. Lymphocyte immunophenotyping did not reveal consistent changes in either B- or T-cell subpopulations in the patients studied. CONCLUSION: Asplenism and gallstones occur frequently in patients with APG I. In addition to careful examination of the peripheral blood smear for Howell-Jolly bodies to screen for asplenism, we recommend an abdominal ultrasound to detect asplenism and/or gallstones in all patients with APG I. Appropriate immunizations and antibiotic coverage may be helpful in those patients with absent spleens.
PURPOSE: This study assesses the occurrence of asplenism and gallstones in patients with autoimmune polyglandular disease type I (APG I). PATIENTS AND METHODS: Nine patients with APG I (ages 14 to 48) were studied at the National Institutes of Health. Each patient received endocrine testing, a careful examination of his or her peripheral blood smear, lymphocyte immunophenotyping, a liver-spleen scan, and either an upper abdominal ultrasound or a computer-assisted tomogram to evaluate the spleen and gallbladder. RESULTS: We documented asplenism in four patients and cholelithiasis in four patients, with two patients having both conditions. The patients with asplenism had Howell-Jolly bodies on peripheral blood smears, lack of splenic uptake by liver-spleen scan, and absent spleens by abdominal computed tomographic scan or ultrasound evaluation. The clinical presentation of the patients with cholelithiasis ranged from acute symptoms requiring surgery to asymptomatic gallstones. Lymphocyte immunophenotyping did not reveal consistent changes in either B- or T-cell subpopulations in the patients studied. CONCLUSION: Asplenism and gallstones occur frequently in patients with APG I. In addition to careful examination of the peripheral blood smear for Howell-Jolly bodies to screen for asplenism, we recommend an abdominal ultrasound to detect asplenism and/or gallstones in all patients with APG I. Appropriate immunizations and antibiotic coverage may be helpful in those patients with absent spleens.
Authors: Elise M N Ferré; Timothy J Break; Peter D Burbelo; Michael Allgäuer; David E Kleiner; Dakai Jin; Ziyue Xu; Les R Folio; Daniel J Mollura; Muthulekha Swamydas; Wenjuan Gu; Sally Hunsberger; Chyi-Chia R Lee; Anamaria Bondici; Kevin W Hoffman; Jean K Lim; Kerry Dobbs; Julie E Niemela; Thomas A Fleisher; Amy P Hsu; Laquita N Snow; Dirk N Darnell; Samar Ojaimi; Megan A Cooper; Martin Bozzola; Gary I Kleiner; Juan C Martinez; Robin R Deterding; Douglas B Kuhns; Theo Heller; Karen K Winer; Arun Rajan; Steven M Holland; Luigi D Notarangelo; Kevin P Fennelly; Kenneth N Olivier; Michail S Lionakis Journal: Sci Transl Med Date: 2019-06-05 Impact factor: 17.956
Authors: Elise M N Ferre; Stacey R Rose; Sergio D Rosenzweig; Peter D Burbelo; Kimberly R Romito; Julie E Niemela; Lindsey B Rosen; Timothy J Break; Wenjuan Gu; Sally Hunsberger; Sarah K Browne; Amy P Hsu; Shakuntala Rampertaap; Muthulekha Swamydas; Amanda L Collar; Heidi H Kong; Chyi-Chia Richard Lee; David Chascsa; Thomas Simcox; Angela Pham; Anamaria Bondici; Mukil Natarajan; Joseph Monsale; David E Kleiner; Martha Quezado; Ilias Alevizos; Niki M Moutsopoulos; Lynne Yockey; Cathleen Frein; Ariane Soldatos; Katherine R Calvo; Jennifer Adjemian; Morgan N Similuk; David M Lang; Kelly D Stone; Gulbu Uzel; Jeffrey B Kopp; Rachel J Bishop; Steven M Holland; Kenneth N Olivier; Thomas A Fleisher; Theo Heller; Karen K Winer; Michail S Lionakis Journal: JCI Insight Date: 2016-08-18
Authors: S H Pearce; T Cheetham; H Imrie; B Vaidya; N D Barnes; R W Bilous; D Carr; K Meeran; N J Shaw; C S Smith; A D Toft; G Williams; P Kendall-Taylor Journal: Am J Hum Genet Date: 1998-12 Impact factor: 11.025